A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677709



Internal ID9597128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:17619311..17620044hg38UCSC Ensembl
chrX:17637431..17638164hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg38734
hg19734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5859685, essv6341821, essv6349476, essv5945043, essv6161613, essv6413207, essv6370294, essv5817717, essv6507250, essv6133705, essv5715318, essv6298942, essv5989028, essv6197195, essv6035279, essv5858701, essv5438103, essv6199939, essv5443652, essv6372159, essv6037494, essv5544038, essv5773798, essv5896456, essv5646037, essv5940472, essv6104404, essv5683564, essv5438916, essv5805490, essv6111950, essv6468576, essv5872856, essv5849466, essv6227405, essv6419218, essv6010006, essv6022602, essv5550744, essv5833877, essv6535169, essv6257191, essv5639725, essv5466600, essv5407601, essv5532294, essv5901982, essv6529181, essv5407356, essv5454707
SamplesNA19207, NA12043, NA07347, NA18871, HG01052, NA18561, NA18501, NA11918, NA18603, NA18516, NA18608, NA19144, NA07051, NA18943, NA19239, NA11994, NA12155, NA07357, NA18856, NA18638, NA18959, NA18609, NA11831, NA12144, NA18486, NA06986, NA18522, NA19005, NA18510, NA19119, NA18558, NA18961, NA19347, NA18974, NA18945, NA12891, NA10851, NA19138, NA18907, NA18909, NA19201, NA18971, NA11992, NA12003, NA19160, NA11829, NA19171, NA19240, NA18853, NA19200
Known GenesNHS
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677709
Frequency
Sample Size1151
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer