A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12928371



Internal ID5069417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:111046500..111071900hg38UCSC Ensembl
Innerchr7:111046530..111071871hg38UCSC Ensembl
Outerchr7:111046471..111071930hg38UCSC Ensembl
chr7:110686556..110711956hg19UCSC Ensembl
Innerchr7:110686586..110711927hg19UCSC Ensembl
Outerchr7:110686527..110711986hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3825401
hg1925401
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614548
Supporting Variants
SamplesNA18539
Known GenesIMMP2L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12928371
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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