A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12975954



Internal ID5955607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135234558..135235726hg38UCSC Ensembl
Innerchr7:135234568..135235717hg38UCSC Ensembl
Outerchr7:135234549..135235736hg38UCSC Ensembl
chr7:134919310..134920478hg19UCSC Ensembl
Innerchr7:134919320..134920469hg19UCSC Ensembl
Outerchr7:134919301..134920488hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg381169
hg191169
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615116
Supporting Variants
SamplesNA19375
Known GenesSTRA8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12975954
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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