A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615364



Internal ID6655563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146419291..146421073hg38UCSC Ensembl
Innerchr7:146419291..146421073hg38UCSC Ensembl
Outerchr7:146419006..146421405hg38UCSC Ensembl
chr7:146116383..146118165hg19UCSC Ensembl
Innerchr7:146116383..146118165hg19UCSC Ensembl
Outerchr7:146116098..146118497hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381783
hg191783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12997643
SamplesHG00475
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615364
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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