A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638723



Internal ID7025508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58170015..58172474hg38UCSC Ensembl
Innerchr16:58170515..58171974hg38UCSC Ensembl
Outerchr16:58169015..58173474hg38UCSC Ensembl
chr16:58203919..58206378hg19UCSC Ensembl
Innerchr16:58204419..58205878hg19UCSC Ensembl
Outerchr16:58202919..58207378hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg382460
hg192460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15486811, essv15486805, essv15486803, essv15486816, essv15486809, essv15486812, essv15486806, essv15486815, essv15486808, essv15486813, essv15486817, essv15486804, essv15486810, essv15486818, essv15486814, essv15486820, essv15486807, essv15486819
SamplesHG03616, HG01686, NA19684, NA12399, HG03754, HG02491, HG04033, HG03910, HG01979, NA19774, HG00250, HG02219, HG01530, HG03720, HG03779, HG00339, HG03600, NA12890
Known GenesCSNK2A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638723
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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