A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587603



Internal ID6975025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154313558..154318044hg38UCSC Ensembl
Innerchr1:154313578..154318024hg38UCSC Ensembl
Outerchr1:154313538..154318064hg38UCSC Ensembl
chr1:154286034..154290520hg19UCSC Ensembl
Innerchr1:154286054..154290500hg19UCSC Ensembl
Outerchr1:154286014..154290540hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384487
hg194487
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10151996, essv10151995, essv10151994
SamplesHG03294, HG03024, HG02107
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587603
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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