A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585442



Internal ID6625760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21237786..21238153hg38UCSC Ensembl
Innerchr1:21237805..21238135hg38UCSC Ensembl
Outerchr1:21237768..21238172hg38UCSC Ensembl
chr1:21564279..21564646hg19UCSC Ensembl
Innerchr1:21564298..21564628hg19UCSC Ensembl
Outerchr1:21564261..21564665hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9884055, essv9884054, essv9884056, essv9884053
SamplesHG02325, NA20340, NA19717, NA20296
Known GenesECE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585442
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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