A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614849



Internal ID7001742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123129294..123130683hg38UCSC Ensembl
Innerchr7:123129331..123130647hg38UCSC Ensembl
Outerchr7:123129258..123130720hg38UCSC Ensembl
chr7:122769348..122770737hg19UCSC Ensembl
Innerchr7:122769385..122770701hg19UCSC Ensembl
Outerchr7:122769312..122770774hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg381390
hg191390
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12949041
SamplesHG02654
Known GenesSLC13A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614849
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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