A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662794



Internal ID9582213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3996116..3997472hg38UCSC Ensembl
Outerchr18:3995745..3997842hg38UCSC Ensembl
Innerchr18:3996116..3997472hg19UCSC Ensembl
Outerchr18:3995745..3997842hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg382098
hg192098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5854278, essv6528362, essv6185944, essv6010410, essv6287994, essv5863593, essv6012943, essv6269186, essv5573237, essv5847272, essv6240523, essv5637127, essv5647271, essv5882694, essv5694691, essv6354300, essv5936530, essv5605402, essv5561993, essv6327308, essv5873974, essv6409391, essv6192397, essv5787063
SamplesHG01441, HG01359, HG01440, HG01389, HG01492, HG01488, HG01491, HG01350, HG01461, HG01134, HG01375, HG01378, HG01360, HG01113, HG01136, HG01497, HG01351, HG01137, HG01366, HG01125, HG01374, HG01462, HG01489, HG01377
Known GenesDLGAP1, DLGAP1-AS4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662794
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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