A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675462



Internal ID9594881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32085198..32085693hg38UCSC Ensembl
chr5:32085304..32085799hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5491932, essv5590775, essv5581970, essv5884156, essv6011722, essv5701527, essv6215768, essv6236604, essv6101251, essv5467631, essv5880847, essv5715555, essv5504857, essv5715115, essv5715103, essv5889722, essv6229398, essv6433886, essv5780737, essv5732711, essv5399246, essv5469252, essv6250741, essv6361664, essv5458364, essv5800888, essv5866420, essv5926643, essv5897724, essv5838200, essv5448119, essv5405983, essv6197061, essv5413449, essv6180013, essv6534821, essv5444024, essv6189805, essv6187000, essv6571349, essv5928012, essv6481789, essv6535641, essv5717270, essv6355132, essv6414188, essv6293881, essv5797772, essv6182561, essv6050519, essv5540053, essv5676953, essv5857452, essv6583913, essv5475522, essv6140795, essv6170225, essv5665988
SamplesNA20281, NA11881, NA12489, NA19152, NA19625, NA12249, NA12750, NA19712, NA18951, NA19209, NA19093, NA19435, NA18545, NA19359, NA18489, NA19144, NA19210, NA19834, NA19108, NA19701, NA19355, NA19472, NA18873, NA19147, NA18949, HG01107, NA19383, NA19982, NA19239, NA18960, NA19429, NA19908, NA19985, NA19835, NA19700, NA12144, NA07346, NA19703, NA18498, NA18486, NA19119, NA19098, NA18487, NA19707, NA19131, NA19462, NA19138, NA18909, NA19201, NA19403, NA12156, NA19116, NA20289, NA18577, NA18944, NA19240, NA18981, NA19200
Known GenesPDZD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675462
Frequency
Sample Size1151
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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