A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12997641



Internal ID2130447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146300282..146308625hg38UCSC Ensembl
Innerchr7:146300289..146308618hg38UCSC Ensembl
Outerchr7:146300275..146308632hg38UCSC Ensembl
chr7:145997374..146005717hg19UCSC Ensembl
Innerchr7:145997381..146005710hg19UCSC Ensembl
Outerchr7:145997367..146005724hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg388344
hg198344
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615363
Supporting Variants
SamplesHG01935
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12997641
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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