A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642621



Internal ID6682701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:56967135..56967635hg38UCSC Ensembl
Innerchr18:56967151..56967620hg38UCSC Ensembl
Outerchr18:56967120..56967651hg38UCSC Ensembl
chr18:54634366..54634866hg19UCSC Ensembl
Innerchr18:54634382..54634851hg19UCSC Ensembl
Outerchr18:54634351..54634882hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15888940, essv15888946, essv15888945, essv15888947, essv15888939, essv15888936, essv15888944, essv15888943, essv15888941, essv15888942, essv15888938, essv15888937
SamplesHG03086, HG02508, HG03039, HG02577, HG03195, NA19372, HG02439, NA18504, HG03499, HG02481, HG02891, NA19473
Known GenesWDR7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642621
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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