A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612548



Internal ID6999448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23678626..23679336hg38UCSC Ensembl
Innerchr7:23678843..23679286hg38UCSC Ensembl
Outerchr7:23678442..23679520hg38UCSC Ensembl
chr7:23718245..23718955hg19UCSC Ensembl
Innerchr7:23718462..23718905hg19UCSC Ensembl
Outerchr7:23718061..23719139hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38711
hg19711
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12704035, essv12704031, essv12704043, essv12704023, essv12704029, essv12704016, essv12704025, essv12704032, essv12704019, essv12704037, essv12704041, essv12704021, essv12704045, essv12704030, essv12704034, essv12704017, essv12704044, essv12704018, essv12704028, essv12704047, essv12704036, essv12704046, essv12704027, essv12704026, essv12704049, essv12704022, essv12704024, essv12704020, essv12704050, essv12704040, essv12704038, essv12704033, essv12704039, essv12704048, essv12704051, essv12704042
SamplesHG01985, HG03517, HG03558, NA18486, HG03295, HG03297, HG03172, HG03069, HG03082, NA20320, NA19023, HG02054, HG03209, NA19923, HG01069, HG03212, NA19238, HG03045, HG02471, NA19725, NA18520, HG03225, HG02946, NA18864, NA20342, HG03294, HG02881, HG03391, HG02585, NA19390, NA19149, HG03433, HG02464, HG03557, HG03084, NA19093
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612548
Frequency
Sample Size2504
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer