A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585104



Internal ID6625422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6374422..6385261hg38UCSC Ensembl
Innerchr1:6374465..6385218hg38UCSC Ensembl
Outerchr1:6374379..6385304hg38UCSC Ensembl
chr1:6434482..6445321hg19UCSC Ensembl
Innerchr1:6434525..6445278hg19UCSC Ensembl
Outerchr1:6434439..6445364hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3810840
hg1910840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9845898, essv9845903, essv9845911, essv9845907, essv9845916, essv9845896, essv9845899, essv9845914, essv9845906, essv9845917, essv9845900, essv9845904, essv9845912, essv9845902, essv9845897, essv9845913, essv9845908, essv9845915, essv9845910, essv9845905, essv9845909, essv9845901
SamplesHG00096, HG03731, NA19914, HG01140, HG00138, NA18558, HG00325, NA12044, NA12760, HG03007, HG01344, HG00684, HG03625, NA20870, NA12046, NA20504, HG00371, HG02681, HG03922, HG00345, HG01509, HG03864
Known GenesACOT7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585104
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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