A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644442



Internal ID7031197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43064239..43279474hg38UCSC Ensembl
Innerchr19:43064739..43278974hg38UCSC Ensembl
Outerchr19:43063239..43280474hg38UCSC Ensembl
chr19:43568391..43783626hg19UCSC Ensembl
Innerchr19:43568891..43783126hg19UCSC Ensembl
Outerchr19:43567391..43784626hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38215236
hg19215236
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv662e214
Supporting Variantsessv16059017, essv16059003, essv16059004, essv16059006, essv16059005, essv16059007, essv16059002, essv16059009, essv16059008, essv16059012, essv16059001, essv16059015, essv16059011, essv16059016, essv16059013, essv16059014, essv16059010
SamplesNA20274, NA18999, HG03074, HG01350, NA20774, HG03209, NA18874, HG03583, HG01882, HG02144, HG02649, NA19338, HG02667, NA19834, NA18543, HG02941, HG02284
Known GenesLOC284344, PSG2, PSG4, PSG5, PSG9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644442
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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