A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12718005



Internal ID6029408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30469920..30471103hg38UCSC Ensembl
Innerchr7:30469938..30471086hg38UCSC Ensembl
Outerchr7:30469903..30471121hg38UCSC Ensembl
chr7:30509536..30510719hg19UCSC Ensembl
Innerchr7:30509554..30510702hg19UCSC Ensembl
Outerchr7:30509519..30510737hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381184
hg191184
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612709
Supporting Variants
SamplesNA19437
Known GenesNOD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12718005
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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