A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12829569



Internal ID2831385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:71258468..71265143hg38UCSC Ensembl
Innerchr7:71258489..71265123hg38UCSC Ensembl
Outerchr7:71258448..71265164hg38UCSC Ensembl
chr7:70723454..70730129hg19UCSC Ensembl
Innerchr7:70723475..70730109hg19UCSC Ensembl
Outerchr7:70723434..70730150hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg386676
hg196676
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613625
Supporting Variants
SamplesNA20503
Known GenesWBSCR17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12829569
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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