A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611818



Internal ID6998721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1719727..1722945hg38UCSC Ensembl
Innerchr7:1719877..1722795hg38UCSC Ensembl
Outerchr7:1719577..1723095hg38UCSC Ensembl
chr7:1759363..1762581hg19UCSC Ensembl
Innerchr7:1759513..1762431hg19UCSC Ensembl
Outerchr7:1759213..1762731hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg383219
hg193219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12666951
SamplesHG01500
Known GenesELFN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611818
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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