A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641972



Internal ID6682054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23709387..23709969hg38UCSC Ensembl
Innerchr18:23709387..23709969hg38UCSC Ensembl
Outerchr18:23709181..23710142hg38UCSC Ensembl
chr18:21289351..21289933hg19UCSC Ensembl
Innerchr18:21289351..21289933hg19UCSC Ensembl
Outerchr18:21289145..21290106hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38583
hg19583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15819606, essv15819605, essv15819614, essv15819604, essv15819602, essv15819608, essv15819612, essv15819607, essv15819613, essv15819609, essv15819611, essv15819610, essv15819603
SamplesHG03096, NA18924, HG01885, HG03558, HG01879, HG02307, HG02497, HG02470, HG03461, NA19149, HG03458, HG02941, NA18505
Known GenesLAMA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641972
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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