A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12880852



Internal ID2882668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:88829504..88858548hg38UCSC Ensembl
Innerchr7:88829504..88858548hg38UCSC Ensembl
Outerchr7:88829004..88859048hg38UCSC Ensembl
chr7:88458818..88487862hg19UCSC Ensembl
Innerchr7:88458818..88487862hg19UCSC Ensembl
Outerchr7:88458318..88488362hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3829045
hg1929045
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614055
Supporting Variants
SamplesNA19360
Known GenesZNF804B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12880852
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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