A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588068



Internal ID6628368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180431877..180437636hg38UCSC Ensembl
Innerchr1:180431877..180437636hg38UCSC Ensembl
Outerchr1:180431697..180437894hg38UCSC Ensembl
chr1:180401012..180406771hg19UCSC Ensembl
Innerchr1:180401012..180406771hg19UCSC Ensembl
Outerchr1:180400832..180407029hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385760
hg195760
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10200416, essv10200415
SamplesNA19900, HG03258
Known GenesACBD6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588068
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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