A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12908935



Internal ID1144137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100594448..100596929hg38UCSC Ensembl
Innerchr7:100594448..100596929hg38UCSC Ensembl
Outerchr7:100594169..100597232hg38UCSC Ensembl
chr7:100192071..100194552hg19UCSC Ensembl
Innerchr7:100192071..100194552hg19UCSC Ensembl
Outerchr7:100191792..100194855hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382482
hg192482
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614300
Supporting Variants
SamplesHG00978
Known GenesFBXO24, PCOLCE-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12908935
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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