A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662482



Internal ID9928587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:37850376..37855632hg38UCSC Ensembl
Outerchr19:37850005..37856002hg38UCSC Ensembl
Innerchr19:38341016..38346272hg19UCSC Ensembl
Outerchr19:38340645..38346642hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg385998
hg195998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv639e199
Supporting Variantsessv5639877, essv5972244, essv6305891, essv6159773, essv6313523, essv5485416, essv6384033, essv6526244, essv6430486, essv5898220, essv6354011, essv5940564, essv5713051, essv6201695, essv6295525, essv6174901, essv5830293, essv5838065
SamplesHG00361, HG00315, HG00327, HG00185, HG00281, HG00325, HG00309, HG00326, HG00176, HG00328, HG00368, HG00320, HG00336, HG00269, HG00342, HG00343, HG00372, HG00180
Known GenesLOC100631378
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662482
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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