A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2678433

Internal ID9597852
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237837657..237838049hg38UCSC Ensembl
chr2:238746300..238746692hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6234762, essv6495965, essv5536098, essv5997105, essv5512565, essv6216662, essv6535848, essv6006802, essv6271601, essv6047229, essv5772702, essv6111656, essv5801169, essv5508110, essv5739051, essv5410290, essv5877959, essv6045073, essv5891326, essv5412011, essv6184597, essv5922205, essv6525662, essv6220922, essv5843358, essv5490171, essv5526266, essv6562450, essv5522482, essv6106279, essv5915060, essv6512697, essv6113376, essv5635091, essv6091899, essv6351144, essv5992735, essv6281139, essv5731611, essv6026506, essv5562444, essv6377492, essv6389135, essv6490977, essv5826024, essv6408680, essv6317964, essv5923357
SamplesNA12154, HG00318, NA07347, NA18951, NA20503, HG00171, HG00245, NA18526, NA19455, NA18603, HG01082, NA18517, HG00375, HG01491, NA18608, HG01188, NA07051, NA19678, HG01101, HG01134, NA12287, HG00256, NA11994, NA18576, HG01048, NA20530, NA20754, NA18592, NA18856, NA18638, HG00125, HG00254, NA12751, NA19725, NA19153, HG00268, NA18558, HG00273, NA20542, HG01060, NA18909, NA19434, HG00123, NA18499, NA12045, NA11829, HG00271, NA18980
Known GenesRBM44
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2678433
Sample Size1151
Observed Gain0
Observed Loss48
Observed Complex0

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