A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597607



Internal ID6984746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122363278..122363899hg38UCSC Ensembl
Innerchr3:122363278..122363899hg38UCSC Ensembl
Outerchr3:122362922..122364185hg38UCSC Ensembl
chr3:122082125..122082746hg19UCSC Ensembl
Innerchr3:122082125..122082746hg19UCSC Ensembl
Outerchr3:122081769..122083032hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38622
hg19622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11123014, essv11123027, essv11123011, essv11123020, essv11123049, essv11123066, essv11123023, essv11123030, essv11123028, essv11123004, essv11123015, essv11123024, essv11123061, essv11123016, essv11123053, essv11123033, essv11123006, essv11123043, essv11123029, essv11123002, essv11123052, essv11123065, essv11123063, essv11123035, essv11123018, essv11123005, essv11123007, essv11123062, essv11123008, essv11123041, essv11123032, essv11123034, essv11123021, essv11123010, essv11123037, essv11123025, essv11123017, essv11123064, essv11123067, essv11123042, essv11123019, essv11123057, essv11123055, essv11123003, essv11123012, essv11123050, essv11123051, essv11123038, essv11123039, essv11123046, essv11123056, essv11123044, essv11123040, essv11123026, essv11123058, essv11123022, essv11123045, essv11123036, essv11123048, essv11123009, essv11123047, essv11123059, essv11123060, essv11123054, essv11123031, essv11123013, essv11123068
SamplesHG03096, NA18924, NA19909, NA19204, NA18508, NA19914, HG03300, HG03280, NA19393, HG03297, HG03193, NA19107, NA19374, HG03082, HG03436, HG02595, HG03485, HG02756, HG02620, HG01459, HG02549, HG02860, HG00158, NA19922, NA18874, HG02885, HG02642, NA19901, HG02502, HG02623, HG03394, HG03114, NA18867, HG02570, NA19908, HG03428, HG01889, HG03563, HG03085, NA18879, HG03382, HG03202, NA19113, HG02884, NA19320, HG03571, HG01896, HG03567, NA19206, NA19309, HG01190, HG03539, HG01915, HG03469, HG03127, NA19439, NA19818, HG03432, HG02095, HG01912, HG03060, HG03401, HG02052, NA19121, HG02947, HG02861, HG01464
Known GenesCCDC58
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597607
Frequency
Sample Size2504
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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