A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302740



Internal ID15149688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:96896869..96896973hg38UCSC Ensembl
Innerchr5:96896921..96896921hg38UCSC Ensembl
Outerchr5:96896769..96897073hg38UCSC Ensembl
chr5:96232573..96232677hg19UCSC Ensembl
Innerchr5:96232625..96232625hg19UCSC Ensembl
Outerchr5:96232473..96232777hg19UCSC Ensembl
chr5:96258329..96258433hg18UCSC Ensembl
Innerchr5:96258381..96258381hg18UCSC Ensembl
Outerchr5:96258229..96258533hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38105
hg19105
hg18105
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3349e59
Supporting Variantsessv7733925, essv7736554, essv7736673, essv7733151, essv7739140, essv7736544, essv7735158, essv7736943, essv7738316, essv7735365, essv7734786, essv7738570, essv7737268, essv7732588, essv7733438, essv7732826, essv7737336, essv7734904, essv7733599, essv7732778, essv7739019, essv7731861
SamplesNA18502, NA18947, NA10851, NA19190, NA19005, NA12891, NA18547, NA18916, NA18582, NA12287, NA19138, NA19238, NA18951, NA12878, NA18532, NA18523, NA18858, NA11881, NA19108, NA19240, NA12749, NA18965
Known GenesERAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302740
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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