A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12834458



Internal ID1956582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72406083..72409065hg38UCSC Ensembl
Innerchr7:72406084..72409065hg38UCSC Ensembl
Outerchr7:72406083..72409066hg38UCSC Ensembl
chr7:71871068..71874050hg19UCSC Ensembl
Innerchr7:71871069..71874050hg19UCSC Ensembl
Outerchr7:71871068..71874051hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg382983
hg192983
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613658
Supporting Variants
SamplesHG01811
Known GenesCALN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12834458
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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