A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637990



Internal ID7024776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:13741842..13747150hg38UCSC Ensembl
Innerchr16:13741844..13747149hg38UCSC Ensembl
Outerchr16:13741841..13747152hg38UCSC Ensembl
chr16:13835699..13841007hg19UCSC Ensembl
Innerchr16:13835701..13841006hg19UCSC Ensembl
Outerchr16:13835698..13841009hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg385309
hg195309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15378587, essv15378588, essv15378575, essv15378577, essv15378579, essv15378586, essv15378580, essv15378578, essv15378581, essv15378582, essv15378572, essv15378571, essv15378576, essv15378573, essv15378585, essv15378574, essv15378590, essv15378570, essv15378584, essv15378589, essv15378583
SamplesHG00699, HG04156, HG03016, NA18597, HG01849, NA19075, HG00422, NA18648, HG00596, NA18644, HG02165, HG00692, NA21124, HG00463, NA18945, HG00611, HG03833, HG01874, HG00473, HG02139, HG03019
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637990
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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