A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588832



Internal ID6976248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216876885..216884144hg38UCSC Ensembl
Innerchr1:216876902..216884127hg38UCSC Ensembl
Outerchr1:216876868..216884161hg38UCSC Ensembl
chr1:217050227..217057486hg19UCSC Ensembl
Innerchr1:217050244..217057469hg19UCSC Ensembl
Outerchr1:217050210..217057503hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg387260
hg197260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10293905, essv10293904
SamplesNA20282, HG03445
Known GenesESRRG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588832
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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