A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588448



Internal ID6975865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:195717493..195813735hg38UCSC Ensembl
chr1:195686623..195782865hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3896243
hg1996243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10246717
SamplesNA18868
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588448
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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