A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678438



Internal ID9597857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31503220..31504473hg38UCSC Ensembl
chr17:29830238..29831491hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381254
hg191254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6486579, essv6525077, essv6211609, essv5898100, essv6536505, essv6179355, essv6163905, essv5805422, essv5827724, essv5570063, essv6462075, essv5592845, essv6147752, essv6545796, essv6366988, essv6196325, essv6070809, essv5566335, essv5466706, essv5618423, essv6528879, essv5918728, essv5821719, essv5709043, essv5760046, essv6065376, essv6075841, essv5867999, essv5752285, essv5449229, essv5802676, essv5763202, essv6157871, essv5549555, essv6231777, essv6471463, essv6499981, essv5494722, essv6519364, essv6244224, essv5576832, essv6334965, essv5889463, essv6106611, essv5757528, essv6369397, essv5419883, essv6345340, essv5631892, essv5418589
SamplesNA19625, NA19712, NA18520, NA19904, HG01342, NA19435, NA19317, NA19359, NA19453, NA19449, NA19920, NA19461, HG00701, NA19834, NA19355, NA19472, NA19467, NA19463, NA19383, NA19471, NA19444, NA19396, NA19397, NA19398, NA19440, NA19908, NA19457, NA19213, NA19360, NA19377, NA19395, NA19172, NA19189, NA19374, NA19703, NA19393, NA19373, NA19901, NA19347, NA19909, NA19376, NA19391, NA19723, NA19434, NA19371, NA19916, NA19130, NA19350, NA19381, NA19439
Known GenesRAB11FIP4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678438
Frequency
Sample Size1151
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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