A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12657170



Internal ID2658986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:183003..202814hg38UCSC Ensembl
chr7:183003..202814hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3819812
hg1919812
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611760
Supporting Variants
SamplesHG00239
Known GenesFAM20C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12657170
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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