A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6444655



Internal ID8732830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:101507947..101512701hg38UCSC Ensembl
Outerchr2:101507910..101512751hg38UCSC Ensembl
Innerchr2:102124409..102129163hg19UCSC Ensembl
Outerchr2:102124372..102129213hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg384842
hg194842
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669831
Supporting Variants
SamplesHG00119
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6444655
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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