A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644305



Internal ID6684373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38186775..38188711hg38UCSC Ensembl
Innerchr19:38186788..38188698hg38UCSC Ensembl
Outerchr19:38186762..38188724hg38UCSC Ensembl
chr19:38677415..38679351hg19UCSC Ensembl
Innerchr19:38677428..38679338hg19UCSC Ensembl
Outerchr19:38677402..38679364hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg381937
hg191937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16052174, essv16052172, essv16052175, essv16052166, essv16052173, essv16052171, essv16052169, essv16052170, essv16052176, essv16052167, essv16052168
SamplesNA18861, NA19031, HG03109, NA19037, HG00554, NA19020, HG02922, HG01889, NA19025, NA19399, HG02445
Known GenesSIPA1L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644305
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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