A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12666951



Internal ID1619734
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611818
Supporting Variants
SamplesHG01500
Known GenesELFN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12666951
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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