A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615399



Internal ID6655598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147656106..147666488hg38UCSC Ensembl
Innerchr7:147656114..147666481hg38UCSC Ensembl
Outerchr7:147656099..147666496hg38UCSC Ensembl
chr7:147353198..147363580hg19UCSC Ensembl
Innerchr7:147353206..147363573hg19UCSC Ensembl
Outerchr7:147353191..147363588hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3810383
hg1910383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12998494
SamplesHG04186
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615399
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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