A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13004003



Internal ID3005819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:149790046..150039200hg38UCSC Ensembl
Innerchr7:149790196..150039050hg38UCSC Ensembl
Outerchr7:149789896..150039350hg38UCSC Ensembl
chr7:149487134..149736289hg19UCSC Ensembl
Innerchr7:149487284..149736139hg19UCSC Ensembl
Outerchr7:149486984..149736439hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38249155
hg19249156
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615438
Supporting Variants
SamplesHG00500
Known GenesATP6V0E2, ATP6V0E2-AS1, SSPO, ZNF862
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13004003
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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