A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12998050



Internal ID1122730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146825674..146826678hg38UCSC Ensembl
Innerchr7:146825674..146826678hg38UCSC Ensembl
Outerchr7:146825626..146826734hg38UCSC Ensembl
chr7:146522766..146523770hg19UCSC Ensembl
Innerchr7:146522766..146523770hg19UCSC Ensembl
Outerchr7:146522718..146523826hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381005
hg191005
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615386
Supporting Variants
SamplesHG00766
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12998050
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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