A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659842



Internal ID9925947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:65894119..65894573hg38UCSC Ensembl
chrX:65113961..65114415hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5957022, essv6480655, essv6588574, essv5930185, essv6146499, essv5432839, essv6398204, essv6302776, essv5833052, essv6263237, essv5728211, essv6132168, essv6304927, essv6530392, essv5489193, essv5450474, essv6426177, essv6249183, essv5551975, essv5570140, essv5903560, essv5974124, essv5667535, essv5508447, essv6330842, essv5467849, essv5989398, essv6443439, essv5700572, essv5714058, essv5850504, essv6353571, essv5559464, essv5803488, essv5935885, essv5878120, essv6253546, essv6031900, essv5513972, essv6037238, essv5930785, essv6550998, essv5814274, essv6274362, essv5998974, essv6225680, essv5525954, essv5548476, essv6000752, essv6307174, essv5672653, essv5632374, essv5437667, essv6522154, essv6456069, essv5434462, essv6112172
SamplesNA19701, NA19700, NA18861, NA18508, NA18504, NA19190, NA18870, NA19920, NA19374, NA19171, NA19379, NA19315, NA18489, NA19448, NA19678, NA20317, NA19313, NA19138, NA18498, NA20287, NA19681, NA19404, NA19238, NA19172, NA18520, NA19239, NA20127, NA18867, NA19403, NA18933, NA19236, NA18910, NA18907, NA19114, NA18499, NA19099, NA19452, NA19625, NA19436, NA19401, NA19375, NA19108, NA18517, NA19240, HG01342, NA18501, NA19248, NA19474, HG01055, NA19093, NA19726, NA19116, NA19213, NA19900, NA18505, NA18488, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659842
Frequency
Sample Size1151
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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