A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637544



Internal ID6677648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:152902..163809hg38UCSC Ensembl
Innerchr16:153402..163309hg38UCSC Ensembl
Outerchr16:151902..164809hg38UCSC Ensembl
chr16:202901..213808hg19UCSC Ensembl
Innerchr16:203401..213308hg19UCSC Ensembl
Outerchr16:201901..214808hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3810908
hg1910908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv472e214
Supporting Variantsessv15354698, essv15354691, essv15354689, essv15354713, essv15354693, essv15354699, essv15354694, essv15354687, essv15354704, essv15354695, essv15354703, essv15354697, essv15354688, essv15354702, essv15354690, essv15354701, essv15354712, essv15354709, essv15354692, essv15354700, essv15354708, essv15354706, essv15354711, essv15354710, essv15354707, essv15354696, essv15354705
SamplesHG02481, HG03126, NA18959, HG03572, HG03436, HG03168, HG02952, NA18498, HG03520, HG02642, HG02477, HG03048, HG02442, NA19184, HG02508, HG02497, NA18912, NA19017, HG02330, HG03028, NA19321, HG01272, HG03108, NA19475, NA19143, HG02938, HG01431
Known GenesHBZ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637544
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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