A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615084



Internal ID6655284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:133940538..134524796hg38UCSC Ensembl
Innerchr7:133940688..134524646hg38UCSC Ensembl
Outerchr7:133940388..134524946hg38UCSC Ensembl
chr7:133625291..134209548hg19UCSC Ensembl
Innerchr7:133625441..134209398hg19UCSC Ensembl
Outerchr7:133625141..134209698hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38584259
hg19584258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12973642
SamplesHG03875
Known GenesAKR1B1, EXOC4, LRGUK, SLC35B4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615084
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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