A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674613



Internal ID9940718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39126226..39126332hg38UCSC Ensembl
Outerchr19:39125855..39126702hg38UCSC Ensembl
Innerchr19:39616866..39616972hg19UCSC Ensembl
Outerchr19:39616495..39617342hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38848
hg19848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5449583, essv6330767, essv6336717, essv6341071, essv5573359, essv6025244, essv5964465, essv6562145, essv6288326, essv5473745, essv5716095, essv6366996, essv6541336, essv5420990, essv5925107, essv5431714, essv5801808, essv5906580, essv6214572, essv6236132, essv5416028, essv5638499, essv6465571, essv6438701, essv6472594, essv6295607, essv5674742, essv6001259, essv5713703, essv5523514, essv6530194, essv6053436, essv5678378, essv5523714, essv5893166, essv6247431, essv6278734, essv6346003, essv6537126, essv5596704, essv6385404, essv5861313, essv6413173, essv5496698, essv5509925, essv6231610, essv5968254, essv5902432
SamplesNA18502, NA18861, NA18508, NA18507, NA18917, NA19190, NA19107, NA19119, NA19198, NA19131, NA19197, NA19138, NA19130, NA18868, NA19137, NA19159, NA19189, NA19209, NA18908, NA18867, NA19200, NA18934, NA19152, NA19236, NA18910, NA18871, NA18907, NA18499, NA18856, NA18912, NA19099, NA19257, NA18523, NA19160, NA18909, NA19108, NA19256, NA19147, NA19144, NA18501, NA19248, NA18873, NA19213, NA18505, NA19129, NA18522, NA18487, NA19153
Known GenesPAK4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674613
Frequency
Sample Size1151
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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