A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761152



Internal ID10377459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:61081249..63389022hg38UCSC Ensembl
Innerchr7:61063974..62849400hg19UCSC Ensembl
Innerchr7:61067916..62486835hg18UCSC Ensembl
Cytoband7q11.1
Allele length
AssemblyAllele length
hg382307774
hg191785427
hg181418920
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv149e203
Supporting Variantsessv7014715, essv7014723, essv7014737, essv7014743, essv7014740, essv7014736, essv7014738, essv7014719, essv7014739, essv7014718, essv7014732, essv7014726, essv7014735, essv7014725, essv7014712, essv7014716, essv7014729, essv7014742, essv7014713, essv7014724, essv7014720, essv7014728, essv7014717, essv7014730, essv7014714, essv7014727, essv7014741, essv7014731, essv7014721, essv7014734
SamplesRW_0138, RW_0323, RW_0196, RW_0650, RW_0012, RW_0217, RW_0504, RW_0179, RW_0115, RW_0603, RW_0358, RW_0509, RW_0506, RW_0111, RW_0522, RW_0568, RW_0061, RW_0546, RW_0648, RW_0002, RW_0655, RW_0597, RW_0036, RW_0609, RW_0117, RW_0574, RW_0263, RW_0018, RW_0107
Known GenesLOC100287704, LOC100287834, ZNF733P
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2761152
Frequency
Sample Size1109
Observed Gain8
Observed Loss22
Observed Complex0
Frequencyn/a


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