A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13001675



Internal ID5245731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148394107..148397182hg38UCSC Ensembl
Innerchr7:148394107..148397182hg38UCSC Ensembl
Outerchr7:148393959..148397360hg38UCSC Ensembl
chr7:148091199..148094274hg19UCSC Ensembl
Innerchr7:148091199..148094274hg19UCSC Ensembl
Outerchr7:148091051..148094452hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383076
hg193076
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615413
Supporting Variants
SamplesNA18632
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13001675
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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