A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662770



Internal ID9928875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48412311..48412532hg38UCSC Ensembl
chr4:48414328..48414549hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5982751, essv5897667, essv5951284, essv6279938, essv6128725, essv5884782, essv5772223, essv6349650, essv5414359, essv5663434, essv6345099, essv6429106, essv6007587, essv5879943, essv6231955, essv6197719, essv6085632, essv5526117, essv6400970, essv6069421, essv6044792, essv6206352, essv6118162, essv5953180, essv5970104, essv5865238, essv5488487, essv6217346, essv6325843, essv5544451, essv5689454, essv6269376, essv5674899, essv6309096, essv6020907, essv5812388, essv6375946, essv5905887, essv5601337, essv6379278, essv5492257, essv5530132, essv6226512, essv5774265, essv6488426, essv6553012, essv6384263, essv5443104, essv5694486
SamplesNA18592, HG01079, NA20514, NA20752, NA20805, NA19762, HG00689, NA19198, HG01492, HG01083, NA20513, NA20541, NA11930, HG01069, HG01519, NA19722, NA12828, NA19789, NA10847, HG01183, NA18613, HG00629, NA12003, HG01095, NA19391, HG00584, NA18579, HG00740, NA19654, HG01073, NA19257, NA19756, HG01107, NA19401, HG00258, NA19729, NA18559, NA18517, NA19747, HG00734, NA07037, HG00620, NA19328, HG00123, NA18609, NA20807, HG00252, NA19661, NA18577
Known GenesSLAIN2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662770
Frequency
Sample Size1151
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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