A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15960234



Internal ID5962067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79799861..80157032hg38UCSC Ensembl
chr18:77559861..77914915hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38357172
hg19355055
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643326
Supporting Variants
SamplesHG02661
Known GenesADNP2, HSBP1L1, KCNG2, PARD6G-AS1, PQLC1, RBFA, RBFADN, TXNL4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15960234
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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