A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671958



Internal ID9938063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:81160993..81161932hg38UCSC Ensembl
chrX:80416492..80417431hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38940
hg19940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6322774, essv6214590, essv5640083, essv6123623, essv6569178, essv5655370, essv6556956, essv5877797, essv5723227, essv5437934, essv5886882, essv5476748, essv5738924, essv6172816, essv6133212, essv5577586, essv6555425, essv5650730, essv6526917, essv5957985, essv6377343, essv5737495, essv6061774, essv5890802, essv6339122, essv6340965, essv6466949, essv5527052, essv5405135, essv5734608, essv6464417, essv5826193, essv6280569, essv6587902
SamplesNA18502, NA18861, NA10851, NA18561, NA18507, NA18486, NA19355, NA19819, NA12750, NA12155, NA18944, NA18519, NA18960, NA07347, NA19138, NA18498, NA19239, NA18605, NA19210, NA19391, NA18572, NA11919, NA19160, NA18974, NA12716, NA19434, NA18943, NA19398, NA18501, NA19248, NA19093, NA19463, NA18522, NA18965
Known GenesHMGN5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671958
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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