A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12926488



Internal ID5984785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:110823772..110936663hg38UCSC Ensembl
Innerchr7:110823772..110936663hg38UCSC Ensembl
Outerchr7:110823272..110937163hg38UCSC Ensembl
chr7:110463828..110576719hg19UCSC Ensembl
Innerchr7:110463828..110576719hg19UCSC Ensembl
Outerchr7:110463328..110577219hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38112892
hg19112892
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614540
Supporting Variants
SamplesNA19391
Known GenesIMMP2L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12926488
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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