A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662531



Internal ID9928636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:97160089..97163548hg38UCSC Ensembl
chr7:96789401..96792860hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg383460
hg193460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6458930, essv5654917, essv6203828
SamplesHG00671, HG00479, NA19059
Known GenesACN9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662531
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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