A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675873



Internal ID9941978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:73518906..73519816hg38UCSC Ensembl
Outerchr6:73518872..73519851hg38UCSC Ensembl
Innerchr6:74228629..74229539hg19UCSC Ensembl
Outerchr6:74228595..74229574hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38980
hg19980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6150949
SamplesNA19077
Known GenesEEF1A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675873
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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