A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588634



Internal ID6976050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205282381..205283361hg38UCSC Ensembl
Innerchr1:205282381..205283361hg38UCSC Ensembl
Outerchr1:205282182..205283598hg38UCSC Ensembl
chr1:205251509..205252489hg19UCSC Ensembl
Innerchr1:205251509..205252489hg19UCSC Ensembl
Outerchr1:205251310..205252726hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10271149, essv10271170, essv10271174, essv10271181, essv10271156, essv10271167, essv10271179, essv10271143, essv10271141, essv10271166, essv10271144, essv10271148, essv10271145, essv10271178, essv10271158, essv10271160, essv10271159, essv10271176, essv10271168, essv10271142, essv10271165, essv10271169, essv10271155, essv10271180, essv10271175, essv10271164, essv10271173, essv10271153, essv10271147, essv10271146, essv10271140, essv10271150, essv10271172, essv10271154, essv10271157, essv10271152, essv10271161, essv10271171, essv10271177, essv10271163, essv10271151, essv10271162
SamplesNA19704, HG03300, HG03115, HG03298, NA20294, NA19819, HG03100, HG03126, HG03577, NA19920, NA18510, NA19107, NA19201, HG03099, HG02054, HG02489, HG02143, HG03268, NA19901, NA19209, HG03058, NA19921, HG02442, HG03120, NA19043, HG01989, NA19114, NA19449, HG02817, NA18499, HG01921, NA18523, NA19834, HG03117, NA18865, NA19376, NA19711, NA19430, NA19146, NA19312, HG02284, HG01886
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588634
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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