A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639449



Internal ID6679542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:85006831..85009562hg38UCSC Ensembl
Innerchr16:85006835..85009558hg38UCSC Ensembl
Outerchr16:85006827..85009566hg38UCSC Ensembl
chr16:85040437..85043168hg19UCSC Ensembl
Innerchr16:85040441..85043164hg19UCSC Ensembl
Outerchr16:85040433..85043172hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg382732
hg192732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15547109, essv15547095, essv15547102, essv15547098, essv15547104, essv15547107, essv15547108, essv15547096, essv15547091, essv15547103, essv15547105, essv15547094, essv15547101, essv15547106, essv15547093, essv15547099, essv15547110, essv15547092, essv15547097, essv15547100
SamplesHG02477, NA18861, HG03351, NA20346, NA19383, NA19984, NA19900, HG02577, NA18876, NA18916, HG01986, HG02325, HG03472, HG03097, HG03073, HG03499, HG02953, NA19118, HG03117, NA20339
Known GenesZDHHC7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639449
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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