A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666564



Internal ID9932669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230841280..230842233hg38UCSC Ensembl
chr2:231705995..231706948hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38954
hg19954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6376940, essv6429662, essv6532863, essv6177492, essv5727010, essv6314968, essv6082511, essv6130410, essv5922836, essv6178254, essv6585169, essv5998558, essv5747016, essv6100581
SamplesNA19701, NA19700, NA19446, NA19197, NA19313, NA19207, NA19172, NA18520, NA19391, NA19982, NA19461, NA19452, NA19108, NA18873
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666564
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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