A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644228



Internal ID6684296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35209059..35249028hg38UCSC Ensembl
Innerchr19:35209209..35248878hg38UCSC Ensembl
Outerchr19:35208909..35249178hg38UCSC Ensembl
chr19:35699962..35739931hg19UCSC Ensembl
Innerchr19:35700112..35739781hg19UCSC Ensembl
Outerchr19:35699812..35740081hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3839970
hg1939970
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16045660, essv16045659
SamplesNA19331, NA19334
Known GenesFAM187B, LSR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644228
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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