A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11803536



Internal ID5538907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7658552..7672696hg38UCSC Ensembl
Innerchr5:7658702..7672546hg38UCSC Ensembl
Outerchr5:7658402..7672846hg38UCSC Ensembl
chr5:7658665..7672809hg19UCSC Ensembl
Innerchr5:7658815..7672659hg19UCSC Ensembl
Outerchr5:7658515..7672959hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3814145
hg1914145
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603935
Supporting Variants
SamplesNA19001
Known GenesADCY2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11803536
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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