A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12745688



Internal ID6382123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39152087..39209424hg38UCSC Ensembl
chr7:39191686..39249023hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3857338
hg1957338
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612898
Supporting Variants
SamplesNA20320
Known GenesPOU6F2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12745688
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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