A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12881173



Internal ID2882989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:89041206..89050036hg38UCSC Ensembl
Innerchr7:89041210..89050032hg38UCSC Ensembl
Outerchr7:89041202..89050040hg38UCSC Ensembl
chr7:88670520..88679350hg19UCSC Ensembl
Innerchr7:88670524..88679346hg19UCSC Ensembl
Outerchr7:88670516..88679354hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg388831
hg198831
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614065
Supporting Variants
SamplesNA19723
Known GenesZNF804B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12881173
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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