A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643439



Internal ID6683513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2820755..2821742hg38UCSC Ensembl
Innerchr19:2820755..2821742hg38UCSC Ensembl
Outerchr19:2820430..2822025hg38UCSC Ensembl
chr19:2820753..2821740hg19UCSC Ensembl
Innerchr19:2820753..2821740hg19UCSC Ensembl
Outerchr19:2820428..2822023hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38988
hg19988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15969634, essv15969617, essv15969632, essv15969620, essv15969658, essv15969659, essv15969653, essv15969626, essv15969638, essv15969645, essv15969661, essv15969627, essv15969629, essv15969619, essv15969640, essv15969637, essv15969647, essv15969648, essv15969615, essv15969635, essv15969641, essv15969643, essv15969636, essv15969630, essv15969622, essv15969623, essv15969642, essv15969654, essv15969651, essv15969613, essv15969650, essv15969655, essv15969639, essv15969646, essv15969616, essv15969652, essv15969631, essv15969624, essv15969628, essv15969657, essv15969621, essv15969618, essv15969612, essv15969644, essv15969614, essv15969660, essv15969625, essv15969611, essv15969649, essv15969656, essv15969633
SamplesHG03514, NA18924, NA19909, HG02433, HG03449, NA19355, HG02888, NA18870, HG03372, HG02895, HG03385, HG02854, HG03224, NA20287, HG02981, HG02561, NA19385, HG02588, HG03225, HG02946, HG02879, NA19210, NA19437, NA19462, HG02511, HG02953, NA18910, NA19113, HG02979, HG03354, NA19160, HG02586, HG02722, HG03064, HG02613, HG03240, NA19834, HG02799, HG02501, HG03433, HG03557, HG03066, NA20334, NA19468, HG02107, HG03258, NA19102, NA19316, HG02343, NA18620, HG03196
Known GenesZNF554
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643439
Frequency
Sample Size2504
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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