A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641870



Internal ID7028641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14062429..14100393hg38UCSC Ensembl
Innerchr18:14062439..14100384hg38UCSC Ensembl
Outerchr18:14062420..14100403hg38UCSC Ensembl
chr18:14062428..14100392hg19UCSC Ensembl
Innerchr18:14062438..14100383hg19UCSC Ensembl
Outerchr18:14062419..14100402hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3837965
hg1937965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv602e214
Supporting Variantsessv15812834, essv15812832, essv15812833
SamplesHG02442, NA19455, HG01920
Known GenesZNF519
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641870
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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