A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665804



Internal ID9931909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19642973..19643117hg38UCSC Ensembl
chr1:19969467..19969611hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5459437, essv6036115, essv6408548, essv6554793, essv6358926, essv5605740, essv6397529, essv6576085, essv6118858, essv6091084, essv6050765, essv6477665, essv5923218, essv5688136, essv5726227, essv5512168, essv6560099, essv6137860, essv6504015, essv6069894, essv6003600, essv5639250, essv6295411, essv5663368, essv6426654, essv5652595, essv6052525, essv5879207, essv6232076, essv5792817, essv5527392, essv6096985, essv5481825, essv6511055, essv6502108, essv5428971, essv6321951, essv5875277, essv5931890, essv5759792, essv5406583, essv5866477, essv6299994, essv5676047, essv5772995, essv6164313, essv5523208, essv5781165
SamplesNA19394, HG00524, NA19399, HG01066, NA18486, HG00103, NA19393, NA19377, HG00654, NA19190, NA18510, NA19374, NA19381, NA20796, NA19382, NA18489, NA19197, NA19384, NA19404, HG01134, NA19383, HG00683, HG00325, NA20340, NA19372, NA19385, HG01048, NA20127, NA19451, HG01171, NA18934, HG00475, HG00344, NA20344, NA18907, HG01390, NA19774, NA18532, HG01107, NA19436, NA19375, NA18543, HG01174, HG01108, NA19360, NA19398, NA19093, NA19116
Known GenesMINOS1-NBL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665804
Frequency
Sample Size1151
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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