A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12881169



Internal ID2882985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:88966558..88970927hg38UCSC Ensembl
Innerchr7:88966562..88970923hg38UCSC Ensembl
Outerchr7:88966554..88970931hg38UCSC Ensembl
chr7:88595872..88600241hg19UCSC Ensembl
Innerchr7:88595876..88600237hg19UCSC Ensembl
Outerchr7:88595868..88600245hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg384370
hg194370
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614063
Supporting Variants
SamplesNA19723
Known GenesZNF804B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12881169
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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