A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593367



Internal ID6980691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172526656..172527830hg38UCSC Ensembl
Innerchr2:172526656..172527830hg38UCSC Ensembl
Outerchr2:172526388..172528042hg38UCSC Ensembl
chr2:173391384..173392558hg19UCSC Ensembl
Innerchr2:173391384..173392558hg19UCSC Ensembl
Outerchr2:173391116..173392770hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381175
hg191175
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10761094, essv10761082, essv10761097, essv10761089, essv10761091, essv10761088, essv10761086, essv10761095, essv10761092, essv10761087, essv10761081, essv10761096, essv10761093, essv10761083, essv10761098, essv10761085, essv10761084, essv10761090
SamplesNA19028, HG03518, NA18988, HG03464, NA18868, HG02634, NA19189, NA18864, NA19247, NA19913, HG03575, HG02332, HG03064, HG01551, HG03557, HG03066, NA20289, HG03470
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593367
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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