A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12954069



Internal ID5508406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:126334896..126534697hg38UCSC Ensembl
chr7:125974950..126174751hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg38199802
hg19199802
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614931
Supporting Variants
SamplesNA18988
Known GenesGRM8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12954069
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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