A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637694



Internal ID6677796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4250540..4251599hg38UCSC Ensembl
Innerchr16:4250540..4251599hg38UCSC Ensembl
Outerchr16:4250250..4251896hg38UCSC Ensembl
chr16:4300541..4301600hg19UCSC Ensembl
Innerchr16:4300541..4301600hg19UCSC Ensembl
Outerchr16:4300251..4301897hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381060
hg191060
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15363696, essv15363701, essv15363694, essv15363707, essv15363702, essv15363695, essv15363704, essv15363693, essv15363699, essv15363705, essv15363700, essv15363697, essv15363703, essv15363706, essv15363698, essv15363692
SamplesHG02808, HG02896, HG01461, HG02836, HG02646, HG02703, HG03069, HG02624, NA19201, HG02891, HG02678, HG03258, HG02642, HG03372, NA18908, NA19200
Known GenesLOC100507501
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637694
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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