A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12874782



Internal ID2264750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:83498894..83555578hg38UCSC Ensembl
chr7:83128210..83184894hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3856685
hg1956685
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613937
Supporting Variants
SamplesHG02025
Known GenesSEMA3E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12874782
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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