A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641603



Internal ID6681688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3630099..3631707hg38UCSC Ensembl
Innerchr18:3630149..3631657hg38UCSC Ensembl
Outerchr18:3630049..3631757hg38UCSC Ensembl
chr18:3630098..3631706hg19UCSC Ensembl
Innerchr18:3630148..3631656hg19UCSC Ensembl
Outerchr18:3630048..3631756hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381609
hg191609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15779666, essv15779665, essv15779664, essv15779667, essv15779663
SamplesHG02122, NA18964, NA18972, NA18994, NA18640
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641603
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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