A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672585



Internal ID9938690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41894732..41894909hg38UCSC Ensembl
chr19:42398805..42398982hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6169943, essv6353608, essv5858679, essv6333797, essv5916262, essv6596830, essv6240983, essv6130379, essv5582699, essv6279959, essv5482890, essv6395695, essv5452746, essv5614361, essv6080093, essv5707759, essv6048769, essv6419539, essv6297680, essv5991919, essv6216161, essv5765194, essv6069340, essv6338088, essv5874822, essv5407371, essv6008792, essv6260152, essv5811042, essv6005625, essv6297751, essv5541825, essv5958939, essv6111192, essv5942917, essv5682805, essv5562379, essv5553281, essv5408338, essv6192508, essv5870299, essv5550098, essv5661321, essv5408911, essv5505663, essv5740470, essv5529062, essv6555206, essv6414175, essv6405839, essv5457801, essv5836472, essv5479470, essv5528636, essv5680084, essv6394300, essv6517662, essv5925409
SamplesNA19394, HG01173, HG00608, NA18621, HG00524, HG01188, HG01374, NA18603, NA18530, NA18606, HG00654, NA18602, NA19396, NA19381, NA19379, HG00501, NA18597, HG00689, HG00448, NA18582, NA18571, NA19138, NA19384, HG00537, NA19404, HG00325, NA19371, NA19385, HG00422, NA18557, HG00464, HG00543, HG01171, HG00557, HG00428, NA19391, HG00436, HG00556, NA18579, HG00692, NA18566, HG00651, HG00684, HG00704, HG00463, NA18576, NA18542, HG01108, NA19360, HG00662, NA18610, NA18501, HG00614, NA18624, NA18612, NA18549, HG00581, NA18620
Known GenesARHGEF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672585
Frequency
Sample Size1151
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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