A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643326



Internal ID6683406
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15960234, essv15960235
SamplesHG02661, NA06984
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)esv3643326
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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