A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6270639



Internal ID8968102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:29594746..29602024hg38UCSC Ensembl
Outerchr2:29594709..29602074hg38UCSC Ensembl
Innerchr2:29817612..29824890hg19UCSC Ensembl
Outerchr2:29817575..29824940hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg387366
hg197366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675184
Supporting Variants
SamplesHG00537
Known GenesALK
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6270639
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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