A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12881165



Internal ID2882981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:88956491..88967132hg38UCSC Ensembl
Innerchr7:88956991..88966632hg38UCSC Ensembl
Outerchr7:88955491..88968132hg38UCSC Ensembl
chr7:88585805..88596446hg19UCSC Ensembl
Innerchr7:88586305..88595946hg19UCSC Ensembl
Outerchr7:88584805..88597446hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3810642
hg1910642
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614061
Supporting Variants
SamplesNA12763
Known GenesZNF804B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12881165
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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