A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12667012



Internal ID1021973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1816365..1823961hg38UCSC Ensembl
Innerchr7:1816371..1823956hg38UCSC Ensembl
Outerchr7:1816360..1823967hg38UCSC Ensembl
chr7:1856001..1863597hg19UCSC Ensembl
Innerchr7:1856007..1863592hg19UCSC Ensembl
Outerchr7:1855996..1863603hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg387597
hg197597
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611827
Supporting Variants
SamplesHG00640
Known GenesMAD1L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12667012
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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