A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678027



Internal ID9944132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:123816716..123819972hg38UCSC Ensembl
OuterchrX:123816345..123820342hg38UCSC Ensembl
InnerchrX:122950566..122953822hg19UCSC Ensembl
OuterchrX:122950195..122954192hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg383998
hg193998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5986040, essv5942721, essv6195626, essv5421500, essv5803483, essv5566488, essv5870317, essv6259016, essv5858470, essv5788272, essv6291003, essv5480840, essv5801109, essv6209778, essv5489982, essv5881499, essv6594416, essv5630023, essv6485137, essv6214242, essv5523523, essv5429500, essv5772501, essv5631303, essv5523818, essv5524936, essv6559471, essv6575175, essv5522998, essv5853947, essv5940531, essv6472785, essv6195634, essv6002963, essv6228696, essv5794923, essv6558927, essv6456701, essv6398150
SamplesNA19701, NA19700, NA19703, NA19914, NA19704, NA19819, NA20332, NA20346, NA20356, NA19920, NA20317, NA19916, NA20336, NA19904, NA20291, NA20278, NA19917, NA20340, NA19901, NA20342, NA19921, NA19908, NA19707, NA20314, NA19982, NA20126, NA20282, NA19834, NA20276, NA19712, NA19835, NA20281, NA20341, NA19818, NA20348, NA20334, NA20289, NA19711, NA19900
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678027
Frequency
Sample Size1151
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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