A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657279



Internal ID9923384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:71154686..71159891hg38UCSC Ensembl
chr7:70619672..70624877hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg385206
hg195206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6301166, essv5805618, essv6515082, essv5422161, essv5924194
SamplesNA19703, NA19819, NA18520, NA19982, NA19712
Known GenesWBSCR17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657279
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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