A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644652



Internal ID7031406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50752847..50763917hg38UCSC Ensembl
Innerchr19:50752897..50763867hg38UCSC Ensembl
Outerchr19:50752797..50763967hg38UCSC Ensembl
chr19:51256104..51267174hg19UCSC Ensembl
Innerchr19:51256154..51267124hg19UCSC Ensembl
Outerchr19:51256054..51267224hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3811071
hg1911071
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv668e214
Supporting Variantsessv16078626, essv16078624, essv16078620, essv16078622, essv16078621, essv16078627, essv16078623, essv16078625
SamplesNA18565, HG02155, HG00598, HG02807, HG03695, HG01866, HG01933, HG04061
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644652
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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