A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663242



Internal ID9929347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:104363892..104365882hg38UCSC Ensembl
chrX:103608573..103610563hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg381991
hg191991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6433757, essv5713485, essv5658849, essv5845555, essv6173640, essv5396699, essv5773134, essv5564496, essv6084953, essv6218516, essv6145742, essv6375953, essv5903246, essv5475915, essv5995933, essv6393009, essv6269947, essv5595798, essv6411950, essv6127296, essv6098636
SamplesNA19700, NA19379, NA19130, NA19383, NA18874, NA19372, NA19172, NA19901, NA20342, NA19456, NA19445, HG01136, NA19462, NA19453, NA19625, NA19256, NA19435, NA19467, NA19116, NA19430, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663242
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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