A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12756647



Internal ID2758463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45166487..45167709hg38UCSC Ensembl
Innerchr7:45166520..45167676hg38UCSC Ensembl
Outerchr7:45166454..45167742hg38UCSC Ensembl
chr7:45206086..45207308hg19UCSC Ensembl
Innerchr7:45206119..45207275hg19UCSC Ensembl
Outerchr7:45206053..45207341hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg381223
hg191223
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613016
Supporting Variants
SamplesNA20320
Known GenesRAMP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12756647
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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