A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13053716



Internal ID3055532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:158774147..159247998hg38UCSC Ensembl
Innerchr7:158774297..159247848hg38UCSC Ensembl
Outerchr7:158773997..159248148hg38UCSC Ensembl
chr7:158566838..159040688hg19UCSC Ensembl
Innerchr7:158566988..159040538hg19UCSC Ensembl
Outerchr7:158566688..159040838hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38473852
hg19473851
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615741
Supporting Variants
SamplesHG03851
Known GenesESYT2, LINC00689, VIPR2, WDR60
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13053716
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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