A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12997758



Internal ID4240905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146587355..146591025hg38UCSC Ensembl
Innerchr7:146587388..146590992hg38UCSC Ensembl
Outerchr7:146587322..146591058hg38UCSC Ensembl
chr7:146284447..146288117hg19UCSC Ensembl
Innerchr7:146284480..146288084hg19UCSC Ensembl
Outerchr7:146284414..146288150hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg383671
hg193671
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615377
Supporting Variants
SamplesHG03814
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12997758
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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