A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678314



Internal ID9597733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173024192..173024516hg38UCSC Ensembl
chr2:173888920..173889244hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6165868, essv5692500, essv6391936, essv6216481, essv6138066, essv6489644, essv5985460, essv6137507, essv5432364, essv6420107, essv5717790, essv6536332, essv6490871, essv5719716, essv6206524, essv6018163, essv6489424, essv6396708, essv5624929, essv6237738, essv6516288, essv6141230, essv6485100, essv6133801, essv5939512, essv6129215, essv6040605, essv6149834, essv6553130, essv6548044, essv6350073, essv5871094, essv5621792, essv6359587, essv5494921, essv6082366, essv6184374, essv5649819, essv5865406, essv6066610, essv5602367, essv5588003, essv6442263, essv5523050, essv6136210, essv5878801, essv5745740, essv6304066, essv6597110, essv6306061, essv6595697, essv5855969, essv6266192, essv5539341
SamplesNA12154, HG00734, HG01359, NA11930, NA20503, HG01353, NA18952, NA20510, HG00707, NA18948, HG00614, NA19782, NA18546, NA20588, NA19648, NA19084, NA19776, NA18628, HG01254, HG01107, NA18559, HG00158, HG00556, NA20505, HG01375, HG00337, NA18622, NA19722, HG01061, HG01495, NA19066, NA20541, NA12400, NA18637, NA20589, HG00662, NA19676, HG01465, NA18633, NA12275, NA18564, HG00277, HG01383, NA18945, HG00120, NA18582, NA18567, NA19078, NA12749, HG00138, HG00654, HG00690, HG00641, HG01489
Known GenesRAPGEF4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678314
Frequency
Sample Size1151
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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